Physiotherapy Neurology Brain Genetic
Brain
Huntington disease
Progressive supranuclear palsy
Brain and spinal cord
Tay-Sachs disease (late onset)
Kennedys disease
Huntington Disease
Inherited disease that result death of brain cells. FHx
SSx – 30 -50 y o
early signs – personality, cognition, mood
later – chorea (jerky, random movement)
Dx – genetic test (even embrio)
Progressive supranuclear palsy
degenerative disease involving death of specific volume of the brain due to accumulation of tau protein
SSx – balance, slow movement, dementia, difficulties moving eyes
O – 60 – 70 y o
DDx – Alzheimer, Parkinson
– supranuclear – no vertical eye movements
Kennedy’s Disease
AKA spinal and bulbar muscular atrophy
Genetic degeneration of motor neurons in brain (stem) and spinal cord
Bulbar Sx – swallowing, speach, throat
LMN Sx – +ve Babinski and decreased DTR
Tay-Sachs disease (late onset)
Genetic disorder that result destruction of nerve cells in brain and spinal cord
- usually onset 3-6 month old – death at 4 y o
- late onset (juvenile). SSx – seisures, hearing loss, inability to move. death at 15
